Allele Registry

Canonical Allele Identifier: PA916015693

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000231372

RCV001022623

RCV001818556

ClinVar Variation:

236822

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Ile151Val	CA7738293 NM_001287247.2:c.451A>G